{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T03:49:48Z","timestamp":1777693788041,"version":"3.51.4"},"reference-count":15,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Clin Med Insights Case Rep"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:p>Pycnodysostosis is a rare genetic disorder with a prevalence of 1.7 per million births; it usually presents with short stature, osteosclerosis, increased bone fragility, and acro-osteolysis of distal phalanges. There are less than 200 cases reported worldwide and very few from South-East Asia. We present a case of pycnodysostosis who presented with short stature, acro-osteolysis of distal phalanges, and on genetic testing revealing a variant c.847T&gt;C, p.Y283H, in exon 7 of the CTSK in homozygous state: not reported till date to the best of our knowledge.<\/jats:p>","DOI":"10.1177\/1179547619837234","type":"journal-article","created":{"date-parts":[[2019,4,1]],"date-time":"2019-04-01T05:08:51Z","timestamp":1554095331000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["A Novel Variant c.847T&gt;C in\n                    <i>CTSK<\/i>\n                    Gene Leading to Pycnodysostosis: A Case Report"],"prefix":"10.1177","volume":"12","author":[{"given":"Inder Pal Singh","family":"Kochar","sequence":"first","affiliation":[{"name":"Department of Paediatric Endocrinology, Indraprastha Apollo Hospital, Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aashish","family":"Sethi","sequence":"additional","affiliation":[{"name":"Department of Paediatric Endocrinology, Indraprastha Apollo Hospital, Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayesha","family":"Ahamad","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Aligarh Muslim University, Aligarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2019,4,1]]},"reference":[{"key":"bibr1-1179547619837234","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1965.03080090029007"},{"key":"bibr2-1179547619837234","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-20"},{"key":"bibr3-1179547619837234","unstructured":"PolyPhen-2: prediction of functional effects of human nsSNPs. http:\/\/genetics.bwh.harvard.edu\/pph2\/. Accessed December 6, 2016."},{"key":"bibr4-1179547619837234","unstructured":"Mutation t@sting. MutationTaster. http:\/\/www.mutationtaster.org\/. Accessed December 6, 2016."},{"key":"bibr5-1179547619837234","doi-asserted-by":"crossref","unstructured":"Elmore SM. Pycnodysostosis: a review. J Bone Joint Surg Am. 1967;49:153\u2013162. https:\/\/doi.org\/10.2106\/00004623-196749010-00015.","DOI":"10.2106\/00004623-196749010-00015"},{"key":"bibr6-1179547619837234","first-page":"e124","volume":"4","author":"Ebtesam M","year":"2012","journal-title":"J Pediatr Sci"},{"key":"bibr7-1179547619837234","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.03.014"},{"key":"bibr8-1179547619837234","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-60"},{"key":"bibr9-1179547619837234","doi-asserted-by":"publisher","DOI":"10.1148\/rg.317115093"},{"key":"bibr10-1179547619837234","doi-asserted-by":"publisher","DOI":"10.4102\/sajr.v16i2.313"},{"key":"bibr11-1179547619837234","doi-asserted-by":"publisher","DOI":"10.1053\/meta.2001.24924"},{"key":"bibr12-1179547619837234","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-2531"},{"key":"bibr13-1179547619837234","doi-asserted-by":"publisher","DOI":"10.1097\/mcd.0000000000000128"},{"key":"bibr14-1179547619837234","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-014-1582-5"},{"key":"bibr15-1179547619837234","doi-asserted-by":"publisher","DOI":"10.1055\/s-0037-1604100"}],"container-title":["Clinical Medicine Insights: Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1179547619837234","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/1179547619837234","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1179547619837234","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T09:13:39Z","timestamp":1777454019000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/1179547619837234"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1]]},"references-count":15,"alternative-id":["10.1177\/1179547619837234"],"URL":"https:\/\/doi.org\/10.1177\/1179547619837234","relation":{},"ISSN":["1179-5476","1179-5476"],"issn-type":[{"value":"1179-5476","type":"print"},{"value":"1179-5476","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,1]]},"article-number":"1179547619837234"}}